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RNF219 ring finger protein 219 [ Homo sapiens (human) ]

Gene ID: 79596, updated on 7-Oct-2018

Summary

Official Symbol
RNF219provided by HGNC
Official Full Name
ring finger protein 219provided by HGNC
Primary source
HGNC:HGNC:20308
See related
Ensembl:ENSG00000152193 MIM:615906; Vega:OTTHUMG00000017122
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C13orf7
Expression
Ubiquitous expression in testis (RPKM 8.1), brain (RPKM 4.8) and 25 other tissues See more
Orthologs

Genomic context

See RNF219 in Genome Data Viewer
Location:
13q31.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (78614286..78659179, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (79188421..79233314, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene RNF219 antisense RNA 1 Neighboring gene elongin C pseudogene 23 Neighboring gene POU class 4 homeobox 1 Neighboring gene uncharacterized LOC105370272 Neighboring gene ribosomal protein L21 pseudogene 111 Neighboring gene long intergenic non-protein coding RNA 331

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13449, FLJ25774, DKFZp686A01276, DKFZp686N15250, DKFZp686O03173

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_024546.3NP_078822.3  RING finger protein 219

    See identical proteins and their annotated locations for NP_078822.3

    Status: VALIDATED

    Source sequence(s)
    AK023511, BC028586, BI550796, BM674566
    Consensus CDS
    CCDS31997.1
    UniProtKB/Swiss-Prot
    Q5W0B1
    Related
    ENSP00000282003.6, OTTHUMP00000018536, ENST00000282003.6, OTTHUMT00000045363
    Conserved Domains (1) summary
    cd00162
    Location:1759
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    78614286..78659179 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535225.1XP_011533527.1  RING finger protein 219 isoform X1

    See identical proteins and their annotated locations for XP_011533527.1

    Conserved Domains (2) summary
    TIGR04211
    Location:29132
    SH3_and_anchor; SH3 domain protein
    cl25602
    Location:83189
    DUF3552; Domain of unknown function (DUF3552)
  2. XM_024449410.1XP_024305178.1  RING finger protein 219 isoform X1

    Conserved Domains (2) summary
    TIGR04211
    Location:29132
    SH3_and_anchor; SH3 domain protein
    cl25602
    Location:83189
    DUF3552; Domain of unknown function (DUF3552)
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